From CNV to exome: Integrated genetic testing

CSA consists of an genome-wide search for multi-gene deletions and duplications. If this phase is
non-diagnostic, whole exome sequencing with deletion/ duplication analysis (2-exon resolution) is
performed.

We aim to narrow the gap between the appearance of symptoms and the arrival of a diagnosis by offering a novel
comprehensive genetic testing options designed for the evaluation of children with intellectual disability,
congenital abnormalities, and other signs consistent with a genetic syndrome. Our Chromosomal Sequencing
Analysis maximizes both diagnostic yield and clinical efficiency by integrating multiple tests into one
package.

Quick Facts

CSA includes the analysis of large copy number variants, exon level copy number variants, FMR1
expansions, areas of homozygosity, and sequence analysis of phenotype-associated genes.

Copy number variants sensitivity: ≥ 1 gene; down to ≥ 2 exons if a detailed clinical note is provided

Confirmatory testing by qPCR or MLPA

UPD/Areas of Homozygosity: 5 Mb resolution

Parental testing of large copy number variants is included without additional fee.

Identification of a deletion or a duplication in an autosomal recessive gene triggers sequence analysis of the
other allele without additional fee.

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